This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015],
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Function:
Disease:Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) [MIM:194050]. WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,Function:Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Binds DNA as a heterodimer with TCFL4/MLX.,tissue specificity:Expressed in liver, heart, kidney, cerebellum and intestinal tissues.,
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Cellular Localization:
Nucleus.
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Tissue Expression:
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.